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Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action Elvidge, Kristina L.; Farrar, Michelle A.; Christodoulou, John; Kava, Maina P.; Johnson, Alexandra M.; Patterson, Marc C.; Jones, Simon A.; Zuberi, Sameer; Wilmshurst, Jo M.; Smith, Nicholas J. C. Share Save
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Gangliosidoses: Understanding disease evolution in GM1 and GM2 Giugliani, Roberto; Harmatz, Paul; Heron, Benedicte; Hahn, Andreas; Patterson, Marc; Bourchany, Aurelie; Valle, Daniel A. D.; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Schneider, Susanne A.; Carp, Nicoleta; Freitag, Christian; Gill, Aidan; de Frutos, Laura Lopez Share Save
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Application of a natural history study on an investigational drug clinical development Giugliani, Roberto; Valle, Daniel A. D.; Heron, Benedicte; Harmatz, Paul; Hahn, Andreas; Horovitz, Dafne D. G.; Patterson, Marc; Bourchany, Aurelie; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Schneider, Susanne A.; Carp, Nicoleta; Freitag, Christian; Gill, Aidan; de Frutos, Laura Lopez Share Save
Arimoclomol safety profile in the treatment of Niemann-Pick disease type C in a real-world setting: Long-term safety data from an expanded access program in the United States Ficicioglu, Can; Berry-Kravis, Elizabeth; Al-Hertani, Walla; Wang, Raymond Y.; Patterson, Marc; Pena, Loren; Julich, Kristina; Ortiz, Damara; Schleifer, Paula; Hillman, Paul; Hastings, Caroline A.; Orr, Blair; O'Reilly, Ronan J.; Gallo, Daniel Share Save
Arimoclomol for the treatment of Niemann-Pick disease type C ina real-world setting: Long-term data from an expanded accessprogram in the United States Berry-Kravis, Elizabeth; Al-Hertani, Walla; Wang, Raymond Y.; Patterson, Marc; Ficicioglu, Can; Pena, Loren; Julich, Kristina; Ortiz, Damara; Schleifer, Paula; Hastings, Caroline A.; Hillman, Paul; O'Reilly, Ronan J.; Orr, Blair; Gallo, Daniel Share Save
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A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE) Heron, Benedicte; Batzios, Spyros; Mengel, Eugen; Giugliani, Roberto; Patterson, Marc; Gautschi, Matthias; Cornelisse, Peter; Trokan, Luba; Schwierin, Barbara; Rohrbach, Marianne Share Save
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG Pajusalu, Sander; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire-Marine; Vuillaumier-Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; Mcwilliams, Peter; Vernhes, Frederique; Plotkin, Horacio; Morava, Eva; Ounap, Katrin Share Save
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort Lam, Christina; Scaglia, Fernando; Berry, Gerard T.; Larson, Austin; Sarafoglou, Kyriakie; Andersson, Hans C.; Sklirou, Evgenia; Tan, Queenie K. G.; Starosta, Rodrigo T.; Sadek, Mustafa; Wolfe, Lynne; Horikoshi, Seishu; Ali, May; Barone, Rita; Campbell, Teresa; Chang, Irene J.; Coles, Kiaira; Cook, Edward; Eklund, Erik A.; Engelhardt, Nicole M.; Freeman, Mary; Friedman, Jennifer; Fu, Debbie Y. T.; Botzo, Grace; Rawls, Brandy; Hernandez, Christien; Johnsen, Christin; Keller, Kierstin; Kramer, Sara; Kuschel, Bryce; Leshinski, Angela; Martinez-Duncker, Ivan; Mazza, Gina L.; Mercimek-Andrews, Saadet; Miller, Bradley S.; Muthusamy, Karthik; Neira, Juanita; Patterson, Marc C.; Pogorelc, Natalie; Powers, Lex N.; Ramey, Elizabeth; Reinhart, Michaela; Squire, Audrey; Af, Jenny Thies; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C.; Morava, Eva Share Save
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States Adang, Laura A.; Bonkowsky, Joshua L.; Boelens, Jaap Jan; Mallack, Eric; Ahrens-Nicklas, Rebecca; Bernat, John A.; Bley, Annette; Burton, Barbara; Darling, Alejandra; Eichler, Florian; Eklund, Erik; Emrick, Lisa; Escolar, Maria; Fatemi, Ali; Fraser, Jamie L.; Gaviglio, Amy; Keller, Stephanie; Patterson, Marc C.; Orchard, Paul; Orthmann-Murphy, Jennifer; Santoro, Jonathan D.; Schoels, Ludger; Sevin, Caroline; Srivastava, Isha N.; Rajan, Deepa; Rubin, Jennifer P.; Van Haren, Keith; Wasserstein, Melissa; Zerem, Ayelet; Fumagalli, Francesca; Laugwitz, Lucia; Vanderver, Adeline Share Save
A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Baseline clinical data Giugliani, Roberto; Harmatz, Paul; Heron, Benedicte; Patterson, Marc; Schneider, Susanne; Bourchany, Aurelie; Hahn, Andreas; Valle, Daniel A. D.; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Crapard, Laetitia; de Frutos, Laura Lopez; Quintela, Renata Medinaceli; Meyer, Elisa; Thiers, Aurelien; Luzy, Cecile Paquet Share Save
A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidosis (PRONTO): Evaluation of different assessments Giugliani, Roberto; Harmatz, Paul; Heron, Benedicte; Patterson, Marc; Schneider, Susanne; Bourchany, Aurelie; Hahn, Andreas; Valle, Daniel A. D.; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Crapard, Laetitia; de Frutos, Laura Lopez; Quintela, Renata Medinaceli; Thiers, Aurelien; Luzy, Cecile Paquet Share Save
A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Patients' and caregivers' assessments Giugliani, Roberto; Harmatz, Paul; Heron, Benedicte; Patterson, Marc; Schneider, Susanne; Bourchany, Aurelie; Hahn, Andreas; Valle, Daniel A. D.; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Carp, Nicoleta; Crapard, Laetitia; de Frutos, Laura Lopez; Quintela, Renata Medinaceli; Thiers, Aurelien; Luzy, Cecile Paquet Share Save
ARTICLE Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions Muthusamy, Karthik; Perez-Ortiz, Judit M.; Ligezka, Anna N.; Altassan, Ruqaiah; Johnsen, Christin; Schultz, Matthew J.; Patterson, Marc C.; Morava, Eva Share Save
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